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National MPS Society 2011 Annual Report

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National MPS Society 2011 Annual Report annual 2011 report NATIONAL MPS SOCIETY MISSION The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases. MPS CLASSIFICATIONS Mucopolysaccharidoses (MPS) and related diseases are genetic lysosomal storage diseases caused by the body’s inability to produce specific enzymes. Normally, the body uses enzymes to break down and recycle materials in cells. In individuals with MPS and related diseases, the missing or insufficient enzyme prevents the proper recycling process, resulting in the storage of materials in virtually every cell of the body. As a result, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of cell materials. Syndrome Enzyme Deficiency MPS I Hurler, Scheie, Hurler-Scheie a-L-Iduronidase MPS II Hunter Iduronate sulfatase MPS III A Sanfilippo A Heparan N-sulfatase MPS III B Sanfilippo B a-N-Acetylglucosaminidase MPS III C Sanfilippo C Acetyl CoA: a-glycosaminide acetyltransferase MPS III D Sanfilippo D N-Acetylglucosamine 6-sulfatase MPS IV A Morquio A Galactose 6-sulfatase MPS IV B Morquio B bGalactosidase MPS VI Maroteaux-Lamy N-Acetylgalactosamine 4-sulfatase (arylsulfatase B) MPS VII Sly b-Glucuronidase MPS IX Hyaluronidase ML II/III I-Cell, Pseudo-Hurler N-acetylglucosamine-1-polydystrophy phosphotransferase National MPS Society PO Box 14686 / Durham, NC 27709-4686 t: 877.MPS.1001 / p: 919.806.0101 / f: 919.806.2055 e-mail: [email protected] / web: www.mpssociety.org collaboration 01 WHEN WE THINK ABOUT shows joint commitment to our updates, in addition to mentoring COLLABORATION, the focus goal to cure MPS and related new MPS organizations, provides of this year’s Annual Report, diseases. We are grateful to our equality of knowledge globally we visualize the National MPS research funding collaborations among individuals with MPS. Society as the hub of a large with the International Society We are grateful for these many wheel with the spokes our many for Mannosidosis and Related and varied collaborations, but are stakeholders. Over the years we Diseases, the Ryan Foundation, also mindful of the collaborations have developed and nurtured the Caterina Marcus Foundation, with our members and donors relationships with individuals, Insieme per Gabriel, Ben’s Dream through fundraisers, family support companies and organizations—our Foundation and the Children’s programs and our new Planned many stakeholders. Through the Medical Research Foundation. Giving program. The stories you support of this large community we The Society led the development will read in this Annual Report have grown and developed many of the Lysosomal Storage Disease about their interaction with the successful programs. Research Consortium, a research National MPS Society are uplifting initiative between lysosomal disease Our earliest collaborators were the and reinforce their commitment to advocacy groups and the National pharmaceutical companies that follow our mission. Institutes of Health (NIH), to developed treatments critical to fund translational research. In Thank you for your support and the long-term health of individuals recent years we have been an active collaboration with the Society. ! with MPS. Thanks to the generosity participant in the Lysosomal Disease of BioMarin, Genzyme and Shire Network, including providing HGT the Society added staff research support to complement which enabled the growth of PRESIDENT their NIH funding. our educational, awareness and family support programs. Our Additional collaborations developed collaboration with the companies by both our Legislative Committee EXECUTIVE DIRECTOR provide access to our members for and our individual members with patient surveys and advisory boards, legislative staffers have led to patient education materials, and our awareness about the National MPS ongoing Join the Search awareness Society among our elected officials Steve Holland program. in Washington, DC. The work of the Society in Washington has resulted Other collaborators include in increased funding to the NIH, Barbara Wedehase family foundations and other rare support of policies affecting our disease organizations that allow members, and recognition of our our research dollars to extend annual MPS Awareness Day. further through partnership grants. Recipients of a partnership The Society is a leader among grant appreciate that the Society is the International MPS Network, working together with foundations bringing together our sister MPS and organizations, because it organizations. Sharing research PICTURED ON THE COVER Texas MPS Regional Gathering, Annabelle Bozarth (MPS IV) and Aidan Carter (MPS II) F AMILY S U PPOR T COMMITTEE 02 supporting courageous families “ My son, Nick, received The Family Support Committee strives to meet the developing needs of scholarship funding from individuals and families affected by MPS and related diseases. In 2011 the Family Assistance Program expanded. Since the program’s inception the Family Assistance more than $485,000 has been awarded for funding such items as medical Program. This has helped goods, continuing education and conference scholarships. As the program lessen the burden of having continues to grow additional opportunities of support for our families to pay for college. The becomes available. scholarship is just another s3UPPORTEDTHEMEMBERSHIPTOATTENDTHETH!NNUAL&AMILY#ONFERENCE example of how the Society in St. Louis, MO. The Society provided 17 stipends for families to attend and offset the cost of travel and hotel. assists our children in all phases of their lives. s!WARDEDTWENTYlVE #ONTINUING%DUCATION3CHOLARSHIPS to members who are continuing their post high school education. We are grateful for the Scholarships were awarded to eight individuals with MPS and related family support programs diseases, 15 siblings, one parent and one child. and their overall mission to s&UNDED IN&AMILY!SSISTANCE0ROGRAMGRANTSTOHELPFAMILIES obtain durable medical goods. Grants included scooters, hearing aids, an improve the quality of life adaptive tricycle and an enclosed bed. for our children.” s4HE-EDICAL4RAVEL!SSISTANCE0ROGRAM INITSINAUGURALYEAR PROVIDED FUNDINGFORFAMILIES!WARDSINCLUDED FORMILEAGEANDAIRFARE reimbursement to families traveling more than 200 miles from home MOTHER OF NICK BOYCE (MPS I) for medical appointments. continued >> Family Assistance Program Dollars Dawn Checrallah $90,000 $80,000 $70,000 $60,000 $50,000 Nicholas Boyce (MPS I) $40,000 $30,000 $20,000 $10,000 $0 2004 2005 2006 2007 2008 2009 2010 2011 >> s0ROMOTEDANDPROVIDED INlNANCIALSUPPORTFORTWOFAMILY organized, regional social gatherings. s0UBLISHEDTHETHANNUALAngels Among Us, Remembering Our Special Children memorial publication. family support committee s#ONTINUEDTHE7HITE2OSE0ROGRAMANDGRIEFBOOKLETSERIESFORFAMILIES whose child passed away during the year. Families also received U.S. flags flown over the capitol in Washington, DC, in honor of their child. s0ROMOTEDALL&AMILY3UPPORT0ROGRAMSTHROUGHTHEWEBSITE Courage and direct communications with members. s0RESENTED3TANDING/VATIONAWARDSTOINDIVIDUALSWITH-03ANDRELATED diseases. One individual from each MPS subtype is honored each quarter in Courage magazine for their courage, resilience, tenacity and passion for life as they face the challenges of having MPS. The Hogan family at the St. Louis family conference s)SSUED/UTSTANDING3IBLINGS #HILDRENAND2ELATIVES/3#!2 AWARDS recognizing exceptional family members for support, dedication, “ We were incredibly grateful compassion and love provided as they battle MPS with their family to receive a scholarship member. These individuals are recognized in Courage. to attend the 2011 National MPS Society Family Conference. “ A regional event is a great way for local Trying to attend with families to meet and get to know other MPS families. We still remember the three children can be first event we attended when Karina extremely challenging, both was first diagnosed with MPS. The logistically and financially, Hodgkins’ family hosted a regional but the scholarship helped picnic at a park designed for special ease that burden so we needs kids in Katy, TX. As a newly could fully enjoy the diagnosed family, it was so nice to be conference. Our older boys able to spend time with other families that were going through similar things also were blessed by meeting with their kids. so many siblings and affected kids. They, as well The last two years, we’ve hosted Texas as us, came away with a MPS day at Morgan’s Wonderland in Angela and Karina (MPS III) Guajardo much greater appreciation San Antonio, TX. It is a great theme park created for people with disabilities. of our MPS community Both years, I applied for the Society’s grant, however, the second year as a family that we will I did not need to use it because of other sponsorships. Families had a embrace our entire lives.” wonderful time visiting with each other and enjoying the park. It is vital for families to connect with each other; we need the support of other families going through similar issues. MPS is not an easy MPS II PARENTS disorder to live with, but what makes it bearable are the people we have supporting us. The National MPS Society is committed to assisting
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